ZNF423, zinc finger protein 423, 23090

N. diseases: 97; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3539071
Disease: NEPHRONOPHTHISIS 14
NEPHRONOPHTHISIS 14 		0.710 GeneticVariation disease BEFREE Zfp423 mutations result in ciliopathy-related phenotypes, including agenesis of the cerebellar vermis in mice and Joubert syndrome (JBTS19) and nephronophthisis (NPHP14) in humans. 27727273 2016
CUI: C3539071
Disease: NEPHRONOPHTHISIS 14
NEPHRONOPHTHISIS 14 		0.710 GeneticVariation disease UNIPROT Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007 2012
CUI: C3539071
Disease: NEPHRONOPHTHISIS 14
NEPHRONOPHTHISIS 14 		0.710 Biomarker disease GENOMICS_ENGLAND Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007 2012
CUI: C3539071
Disease: NEPHRONOPHTHISIS 14
NEPHRONOPHTHISIS 14 		0.710 Biomarker disease GENOMICS_ENGLAND Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007 2012
CUI: C3539071
Disease: NEPHRONOPHTHISIS 14
NEPHRONOPHTHISIS 14 		0.710 Biomarker disease CTD_human
CUI: C3539071
Disease: NEPHRONOPHTHISIS 14
NEPHRONOPHTHISIS 14 		0.710 CausalMutation disease CLINVAR
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		0.500 GermlineCausalMutation disease ORPHANET Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007 2012
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		0.500 Biomarker disease GENOMICS_ENGLAND Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007 2012
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.330 Biomarker disease BEFREE Our <i>in vivo</i> evidence sheds light on the domain-specific roles played by ZFP423 in different aspects of PC progenitor development, and at the same time strengthens the emerging notion that an impaired DDR may be a key factor in the pathogenesis of JS and other ciliopathies. 28893945 2017
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.330 Biomarker disease BEFREE These results define Zfp423 deficiency as a bona fide ciliopathy, acting upstream of Shh signaling, and indicate a mechanism intrinsic to granule cell precursors for the resulting cerebellar hypoplasia. 27727273 2016
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.330 Biomarker disease BEFREE We show that knockdown of CEP164 or ZNF423 causes sensitivity to DNA damaging agents and that cep164 knockdown in zebrafish results in dysregulated DDR and an NPHP-RC phenotype. 22863007 2012
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.330 Biomarker disease GENOMICS_ENGLAND
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		0.300 GermlineCausalMutation disease ORPHANET Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007 2012
CUI: C3553846
Disease: JOUBERT SYNDROME 19
JOUBERT SYNDROME 19 		0.300 Biomarker disease GENOMICS_ENGLAND Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007 2012
CUI: C0236733
Disease: Amphetamine-Related Disorders
Amphetamine-Related Disorders 		0.300 Biomarker group CTD_human Genome-wide association for methamphetamine dependence: convergent results from 2 samples. 18316681 2008
CUI: C0236804
Disease: Amphetamine Addiction
Amphetamine Addiction 		0.300 Biomarker disease CTD_human Genome-wide association for methamphetamine dependence: convergent results from 2 samples. 18316681 2008
CUI: C0236807
Disease: Amphetamine Abuse
Amphetamine Abuse 		0.300 Biomarker disease CTD_human Genome-wide association for methamphetamine dependence: convergent results from 2 samples. 18316681 2008
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C3553846
Disease: JOUBERT SYNDROME 19
JOUBERT SYNDROME 19 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.200 Biomarker disease MGD Zfp423 controls proliferation and differentiation of neural precursors in cerebellar vermis formation. 17151198 2006
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.200 Biomarker group MGD
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.110 GeneticVariation disease BEFREE Zfp423 mutations result in ciliopathy-related phenotypes, including agenesis of the cerebellar vermis in mice and Joubert syndrome (JBTS19) and nephronophthisis (NPHP14) in humans. 27727273 2016